Canonical Allele Identifier: CA386881210

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420290C>T (hg19) ; chr12:g.115982485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982485C>T , CM000674.2:g.115982485C>T	GRCh38
NC_000012.11:g.116420290C>T , CM000674.1:g.116420290C>T	GRCh37
NC_000012.10:g.114904673C>T	NCBI36
NG_023366.1:g.299702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5074G>A MANE Select	ENSP00000281928.3:p.Asp1692Asn
ENST00000549786.2:c.4502G>A
ENST00000648379.1:n.3442G>A
ENST00000648737.1:n.4838G>A
ENST00000648825.1:n.1814G>A
ENST00000648916.1:n.3085G>A
ENST00000649146.1:n.2317G>A
ENST00000649607.1:c.3258G>A
ENST00000649775.1:c.1563G>A
ENST00000650226.1:c.5074G>A	ENSP00000496981.1:p.Asp1692Asn
ENST00000281928.7:c.5074G>A	ENSP00000281928.3:p.Asp1692Asn
ENST00000549786.1:c.438G>A
ENST00000552340.1:c.106G>A	ENSP00000449876.1:p.Asp36Asn
NM_015335.4:c.5074G>A	NP_056150.1:p.Asp1692Asn
XM_011538080.1:c.5074G>A	XP_011536382.1:p.Asp1692Asn
XM_011538081.1:c.5071G>A	XP_011536383.1:p.Asp1691Asn
XM_011538082.1:c.5044G>A	XP_011536384.1:p.Asp1682Asn
XM_011538080.2:c.5074G>A	XP_011536382.1:p.Asp1692Asn
XM_011538081.2:c.5071G>A	XP_011536383.1:p.Asp1691Asn
XM_011538082.2:c.5044G>A	XP_011536384.1:p.Asp1682Asn
XM_017019090.1:c.5071G>A	XP_016874579.1:p.Asp1691Asn
NM_015335.5:c.5074G>A MANE Select	NP_056150.1:p.Asp1692Asn